Varaico: Literature-Extracted Genetic Variants

Gene:IL2RG
Variant:p.L172Q
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IL2RG

NM_000206.3:p.L172Q

Associated Papers

Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.

Andersen OM et al.

Molecular Neurodegeneration, 2025

41327266 (PubMed )
Supplement: 13024_2025_907_MOESM2_ESM.pdf

Case Report: Interleukin-2 Receptor Common Gamma Chain Defect Presented as a Hyper-IgE Syndrome.

Belaid B et al.

Frontiers in Immunology, 2021

Abnormal development of thymic dendritic and epithelial cells in human X-linked severe combined immunodeficiency.

Hale LP et al.

Clinical Immunology (orlando, Fla.), 2004

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